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Items: 1 to 20 of 122

1.

Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.

Wilkinson DA, Tonin P, Shanske S, Lombes A, Carlson GM, DiMauro S.

Neurology. 1994 Mar;44(3 Pt 1):461-6.

PMID:
8145916
2.

[Exercise intolerance caused by muscular phosphorylase kinase deficiency. Contribution of in vivo metabolic studies].

Laforêt P, Eymard B, Lombès A, Duboc D, Jehenson P, Rocchiccioli F, Chaussain M, Chateau D, Brunet P, Fardeau M.

Rev Neurol (Paris). 1996 Jun-Jul;152(6-7):458-64. Review. French.

PMID:
8944243
3.

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).

Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW.

Hum Mol Genet. 1997 Jul;6(7):1109-15.

PMID:
9215682
4.

Adult phosphorylase b kinase deficiency.

Clemens PR, Yamamoto M, Engel AG.

Ann Neurol. 1990 Oct;28(4):529-38. Review.

PMID:
2252364
5.

Adult-onset exercise intolerance due to phosphorylase b kinase deficiency.

Bak H, Cordato D, Carey WF, Milder D.

J Clin Neurosci. 2001 May;8(3):286-7.

PMID:
11386811
6.
7.

Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.

Danon MJ, Carpenter S, Manaligod JR, Schliselfeld LH.

Neurology. 1981 Oct;31(10):1303-7.

PMID:
6213881
8.

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.

Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW.

Eur J Hum Genet. 2003 Jul;11(7):516-26.

9.

Metabolic myopathies.

Tein I.

Semin Pediatr Neurol. 1996 Jun;3(2):59-98. Review.

PMID:
8795843
10.

Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.

Ohtani Y, Matsuda I, Iwamasa T, Tamari H, Origuchi Y, Miike T.

Neurology. 1982 Aug;32(8):833-8.

PMID:
6285226
11.

Adult muscle phosphorylase "b" kinase deficiency.

Abarbanel JM, Bashan N, Potashnik R, Osimani A, Moses SW, Herishanu Y.

Neurology. 1986 Apr;36(4):560-2.

PMID:
3083284
12.
13.

A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase.

Mizuta K, Hashimoto E, Tsutou A, Eishi Y, Takemura T, Narisawa K, Yamamura H.

Biochem Biophys Res Commun. 1984 Mar 15;119(2):582-7.

PMID:
6424667
14.

Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).

van den Berg IE, van Beurden EA, de Klerk JB, van Diggelen OP, Malingré HE, Boer MM, Berger R.

Am J Hum Genet. 1997 Sep;61(3):539-46.

15.

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

Ørngreen MC, Schelhaas HJ, Jeppesen TD, Akman HO, Wevers RA, Andersen ST, ter Laak HJ, van Diggelen OP, DiMauro S, Vissing J.

Neurology. 2008 May 13;70(20):1876-82. doi: 10.1212/01.wnl.0000289190.66955.67. Epub 2008 Apr 9.

PMID:
18401027
16.

Genetic deficiencies of the glycogen phosphorylase system.

Hendrickx J, Willems PJ.

Hum Genet. 1996 May;97(5):551-6. Review.

PMID:
8655128
17.

A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.

Bruno C, Manfredi G, Andreu AL, Shanske S, Krishna S, Ilse WK, DiMauro S.

Biochem Biophys Res Commun. 1998 Aug 28;249(3):648-51.

PMID:
9731190
18.

Liver glycogenosis caused by a defective phosphorylase system: hemolysate analysis.

Baussan C, Moatti N, Odievre M, Lemonnier A.

Pediatrics. 1981 Jan;67(1):107-12.

PMID:
6787554
19.

The clinical diagnosis of McArdle's disease. Identification of another family with deficiency of muscle phosphorylase.

Rowland LP, Lovelace RE, Schotland DL, Araki S, Carmel P.

Neurology. 1966 Jan;16(1):93-100. No abstract available.

PMID:
5215287
20.

Muscle biopsy in the evaluation of patients with modestly elevated creatine kinase levels.

Simmons Z, Peterlin BL, Boyer PJ, Towfighi J.

Muscle Nerve. 2003 Feb;27(2):242-4.

PMID:
12548533

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